Note: Scoring of VCF files with CADD v1.7 is rather slow if many new variants need to be calculated from scratch, i.e. if thousands of insertion/deletion or multinucleotide subsitutions are included in one scoring request. If you need to calculate scores from scratch for thousands of variants, please consider using the offline scoring scripts from CADD and setting up an internal scoring for your site/institution.

Some users have reported truncated downloads from the US site. We do not see these truncations from the German server. We find that files are being truncated while downloading in Chrome and Edge (to exactly 64 KB on disk, or 63.7KB byte size), but are complete when downloading with Firefox or wget. If you encounter this issue, please use an alternative way of downloading your result files. Very sorry for the inconvenience. We currently do not know how to fix the issue on our side.

Tools and applications using/annotating CADD

  • gnomAD and ExAC: variants aggregated from disease controls, late onset disease studies and population studies
  • Bravo/TOPMed: variants from WGS variant calls aggregated across various cohort studies
  • Ensembl VEP: genome variant annotation tool and platform
  • dbNSFP: database for many different annotations and scores for non-synonymous sequence alterations
  • PopViz: webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations

Annotations

Selection of links to (some) annotations that have been added since CADD v1.4. For more information about annotations included in CADD please also see our manuscripts and release notes.